ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.713C>A (p.Ala238Asp)

gnomAD frequency: 0.00006  dbSNP: rs369398522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025193 SCV002271756 uncertain significance Myofibrillar myopathy 4 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 191 of the LDB3 protein (p.Ala191Asp). This variant is present in population databases (rs369398522, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1482488). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002361345 SCV002665486 uncertain significance Cardiovascular phenotype 2022-04-06 criteria provided, single submitter clinical testing The p.A238D variant (also known as c.713C>A), located in coding exon 5 of the LDB3 gene, results from a C to A substitution at nucleotide position 713. The alanine at codon 238 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003134318 SCV003816503 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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